PMID: 19351393

Complexity in the genetic architecture of leukoaraiosis in hypertensive sibships from the GENOA Study.

BMC medical genomics
JA Smith, ST Turner, YV Sun, M Fornage, RJ Kelly, TH Mosley, CR Jack, IJ Kullo, SL Kardia
2009-04-07

44 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
12-88898498-C-T KITLG c.*475G>A - IntronicSNV 9/9 -
14-76429036-C-T TGFB3 c.926+623G>A - IntronicSNV - 5/6
14-76429036-C-G TGFB3 c.926+623G>C - IntronicSNV - 5/6
3-39318288-C-T CX3CR1 c.-10+3157G>A - intron_variant - 1/1
11-46742426-G-A F2 c.316+36G>A - IntronicSNV - 4/13
2-232394519-A-G NMUR1 c.3+551T>C - IntronicSNV - 1/2
X-154087368-T-A F8 c.6900+1339A>T - IntronicSNV - 25/25
7-100775686-G-T SERPINE1 c.700+336G>T - IntronicSNV - 4/8
1-24447468-G-C IL22RA1 c.1552C>G p.Arg518Gly Missense 7/7 -
3-172228872-G-A TNFSF10 c.270+3779C>T - IntronicSNV - 2/2
2-113414986-A-G SLC20A1 c.778+168A>G - IntronicSNV - 6/10
7-106787065-T-G PRKAR2B c.741+159T>G - IntronicSNV - 6/10
1-55509213-G-C PCSK9 c.208-303G>C - IntronicSNV - 1/11
1-55509213-G-A PCSK9 c.208-303G>A - IntronicSNV - 1/11
2-191749543-C-G GLS c.386+3347C>G - IntronicSNV - 1/14
2-113409837-G-C SLC20A1 c.562-442G>C - IntronicSNV - 4/10
17-56353429-T-A MPO c.1205-366A>T - IntronicSNV - 7/11
7-100775686-G-A SERPINE1 c.700+336G>A - IntronicSNV - 4/8
2-191749543-C-T GLS c.386+3347C>T - IntronicSNV - 1/14
17-45350919-G-A ITGB3 c.80-866G>A - IntronicSNV - 1/14
7-106799997-G-A PRKAR2B c.1227G>A p.Thr409Thr Synonymous 11/11 -
17-45350919-G-C ITGB3 c.80-866G>C - IntronicSNV - 1/14
16-55523011-T-C MMP2 c.856+383T>C - IntronicSNV - 6/12
2-113410015-A-G SLC20A1 c.562-264A>G - IntronicSNV - 4/10
16-55536687-A-G MMP2 c.1620-4A>G - IntronicSNV - 11/12
1-24447468-G-A IL22RA1 c.1552C>T p.Arg518Cys Missense 7/7 -
1-95001867-T-C F3 c.213-147A>G - IntronicSNV - 2/5
12-88925973-T-C KITLG c.192+245A>G - IntronicSNV - 3/8
6-49586416-G-A RHAG c.341+476C>T - IntronicSNV - 2/9
12-96418925-G-A LTA4H c.412-600C>T - IntronicSNV - 3/18
2-191749035-A-T GLS c.386+2839A>T - IntronicSNV - 1/14
2-191749035-A-C GLS c.386+2839A>C - IntronicSNV - 1/14
2-231777551-G-C GPR55 c.1-1874C>G - IntronicSNV - 1/1
2-231777551-G-A GPR55 c.1-1874C>T - IntronicSNV - 1/1
X-154193211-T-C F8 c.1443+1034A>G - IntronicSNV - 9/25
14-76436438-C-A TGFB3 c.646+1031G>T - IntronicSNV - 3/6
14-76436438-C-G TGFB3 c.646+1031G>C - IntronicSNV - 3/6
1-24447468-G-T IL22RA1 c.1552C>A p.Arg518Ser Missense 7/7 -
X-154158285-G-T F8 c.3780C>A p.Asp1260Glu Missense 14/26 -
X-154158285-G-A F8 c.3780C>T p.Asp1260Asp Synonymous 14/26 -
X-154158285-G-C F8 c.3780C>G p.Asp1260Glu Missense 14/26 -
1-24449628-T-C IL22RA1 c.792+164A>G - IntronicSNV - 6/6
9-120470054-A-G TLR4 c.94-787A>G - IntronicSNV - 1/2
14-76436438-C-T TGFB3 c.646+1031G>A - IntronicSNV - 3/6